Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4812001:Six2'

556946

Institutional Source

Beutler Lab

Gene Symbol

Six2

Ensembl Gene

ENSMUSG00000024134

Gene Name

sine oculis-related homeobox 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4812001 (G1)

Quality Score

167.009

Status

Not validated

Chromosome

Chromosomal Location

85991705-85995702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 85992729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 258 (S258I)

Ref Sequence

ENSEMBL: ENSMUSP00000024947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024947] [ENSMUST00000163568]

AlphaFold

Q62232

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024947
AA Change: S258I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024947
Gene: ENSMUSG00000024134
AA Change: S258I

Domain	Start	End	E-Value	Type
HOX	125	186	8.72e-18	SMART
low complexity region	228	269	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163568
AA Change: S258I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125871
Gene: ENSMUSG00000024134
AA Change: S258I

Domain	Start	End	E-Value	Type
Pfam:SIX1_SD	9	119	1.5e-52	PFAM
HOX	125	186	8.72e-18	SMART
low complexity region	228	269	N/A	INTRINSIC

Coding Region Coverage

1x: 93.8%
3x: 91.0%
10x: 85.3%
20x: 73.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die shortly after birth and exhibit abnormal kidney development. Abnormalities include small kidney, lack of ureteric bud branches throughout the kidney, increased apoptosis and premature and arrested nephron development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,630,053 (GRCm39)	S252P	possibly damaging	Het
4933409G03Rik	G	A	2: 68,419,292 (GRCm39)	V14I	probably benign	Het
Adgrf5	T	G	17: 43,761,260 (GRCm39)	V985G	probably damaging	Het
Ankrd44	A	T	1: 54,762,197 (GRCm39)	Y542*	probably null	Het
Atp13a3	T	C	16: 30,181,396 (GRCm39)	T75A	probably damaging	Het
Atr	T	C	9: 95,792,702 (GRCm39)	F1675L	probably benign	Het
Atrnl1	A	G	19: 57,720,055 (GRCm39)	I1082V	probably benign	Het
Clip1	T	A	5: 123,768,738 (GRCm39)	R620S	probably benign	Het
Cped1	T	C	6: 22,122,293 (GRCm39)	F391S	probably benign	Het
Cracr2a	T	C	6: 127,602,833 (GRCm39)	L230P	probably damaging	Het
Dctn1	T	A	6: 83,176,744 (GRCm39)	V1266E	possibly damaging	Het
Dlg1	T	A	16: 31,665,703 (GRCm39)	F687I	probably benign	Het
Dnah8	C	A	17: 30,927,419 (GRCm39)	D1358E	probably benign	Het
Dnajc11	A	G	4: 152,037,346 (GRCm39)	R84G	probably benign	Het
Dnajc14	C	A	10: 128,642,552 (GRCm39)	T158N	probably damaging	Het
Dscc1	A	G	15: 54,945,657 (GRCm39)	L346P	probably damaging	Het
Efcab3	A	G	11: 104,990,805 (GRCm39)	I71V	probably null	Het
Erbb3	T	A	10: 128,410,248 (GRCm39)	Q670L	possibly damaging	Het
Ercc4	G	A	16: 12,962,311 (GRCm39)	E652K	probably benign	Het
Ercc6l2	T	A	13: 64,006,071 (GRCm39)	V591D	possibly damaging	Het
Fam3c	C	T	6: 22,321,369 (GRCm39)	G134E	probably damaging	Het
Frmd5	A	G	2: 121,416,927 (GRCm39)	V70A	probably benign	Het
Gjd3	A	T	11: 102,691,807 (GRCm39)	Y65*	probably null	Het
Gm3033	A	C	14: 3,848,891 (GRCm38)	L137F		Het
Gria4	C	A	9: 4,427,128 (GRCm39)	A771S	probably damaging	Het
Hc	A	G	2: 34,919,464 (GRCm39)	L674P	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hycc2	T	G	1: 58,587,862 (GRCm39)	D117A	possibly damaging	Het
Inpp5f	A	T	7: 128,294,032 (GRCm39)	Y696F	probably benign	Het
Itga11	C	A	9: 62,639,475 (GRCm39)	Q157K	probably damaging	Het
Itgb5	G	T	16: 33,740,357 (GRCm39)	C489F	probably damaging	Het
Klhl38	C	T	15: 58,185,938 (GRCm39)	G264S	probably benign	Het
Krt78	C	T	15: 101,856,504 (GRCm39)	V436M	probably damaging	Het
Mia2	A	T	12: 59,148,365 (GRCm39)	D75V	possibly damaging	Het
Mphosph6	T	A	8: 118,525,888 (GRCm39)	Q20L	probably damaging	Het
Ogfr	C	T	2: 180,237,304 (GRCm39)	P630S	possibly damaging	Het
Or2c1	A	T	16: 3,657,394 (GRCm39)	K186*	probably null	Het
Or4c11	G	A	2: 88,695,314 (GRCm39)	V122M	probably benign	Het
Or5an9	T	G	19: 12,187,617 (GRCm39)	I229S	probably damaging	Het
Pbx3	T	C	2: 34,114,631 (GRCm39)	E101G	probably damaging	Het
Pcca	T	A	14: 123,027,794 (GRCm39)	N587K	probably benign	Het
Pdia3	G	T	2: 121,264,011 (GRCm39)	A287S	probably damaging	Het
Pfas	T	A	11: 68,880,862 (GRCm39)	D209V		Het
Pramel29	A	G	4: 143,936,086 (GRCm39)	I56T	probably benign	Het
Pter	A	T	2: 12,985,179 (GRCm39)	I170F	probably damaging	Het
Ptprq	A	T	10: 107,502,428 (GRCm39)	V830E	probably damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Rbm19	T	C	5: 120,266,315 (GRCm39)	V446A	possibly damaging	Het
Selp	A	G	1: 163,959,832 (GRCm39)	N363D	probably benign	Het
Smc1b	A	G	15: 84,953,852 (GRCm39)	V1139A	possibly damaging	Het
Sp1	A	G	15: 102,316,843 (GRCm39)	T121A	possibly damaging	Het
Sucla2	A	T	14: 73,816,889 (GRCm39)	I210L	possibly damaging	Het
Trank1	T	C	9: 111,176,980 (GRCm39)	L339P	probably damaging	Het
Ttll5	T	A	12: 85,973,635 (GRCm39)	D794E	probably benign	Het
Usp32	C	T	11: 84,900,900 (GRCm39)	V1107I	probably damaging	Het
Vmn1r195	T	C	13: 22,463,033 (GRCm39)	Y168H	probably benign	Het
Vmn1r223	A	G	13: 23,434,060 (GRCm39)	N218S	probably damaging	Het
Vmn2r25	T	A	6: 123,800,447 (GRCm39)	S632C	probably damaging	Het
Vwa3a	A	T	7: 120,375,356 (GRCm39)	K390I	probably damaging	Het
Zfp442	A	T	2: 150,251,661 (GRCm39)	C80*	probably null	Het
Zic1	A	T	9: 91,246,394 (GRCm39)	I226N	probably damaging	Het

Other mutations in Six2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Six2	APN	17	85,995,319 (GRCm39)	missense	probably damaging	1.00
IGL02452:Six2	APN	17	85,992,806 (GRCm39)	missense	possibly damaging	0.91
IGL02468:Six2	APN	17	85,992,931 (GRCm39)	missense	possibly damaging	0.80
PIT4449001:Six2	UTSW	17	85,992,906 (GRCm39)	missense	probably benign	0.00
R2073:Six2	UTSW	17	85,994,933 (GRCm39)	missense	probably damaging	1.00
R2075:Six2	UTSW	17	85,994,933 (GRCm39)	missense	probably damaging	1.00
R2915:Six2	UTSW	17	85,992,616 (GRCm39)	missense	probably damaging	1.00
R3830:Six2	UTSW	17	85,992,615 (GRCm39)	missense	probably damaging	1.00
R5834:Six2	UTSW	17	85,995,092 (GRCm39)	missense	probably damaging	0.96
R7555:Six2	UTSW	17	85,995,135 (GRCm39)	missense	probably damaging	1.00
R7723:Six2	UTSW	17	85,995,103 (GRCm39)	missense	probably benign	0.06
R8011:Six2	UTSW	17	85,995,100 (GRCm39)	missense	probably damaging	1.00
R9150:Six2	UTSW	17	85,992,763 (GRCm39)	missense	probably benign
R9328:Six2	UTSW	17	85,995,196 (GRCm39)	missense	possibly damaging	0.66
R9700:Six2	UTSW	17	85,994,867 (GRCm39)	missense	probably damaging	1.00
Z1176:Six2	UTSW	17	85,992,884 (GRCm39)	missense	probably benign	0.26
Z1177:Six2	UTSW	17	85,995,053 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCACAGACTCCAGAATCTATCG -3'
(R):5'- AGCGAGAACTCCAATTCCAG -3'

Sequencing Primer
(F):5'- GACTCCAGAATCTATCGCCCTC -3'
(R):5'- CACAACCCGCTGGCTTC -3'

Posted On

2019-06-07